Canonical Allele Identifier: CA2802355

Gene: IDUA

Linked Data

• dbSNP Id: rs764406837
• ExAC: 4:997389 GGTCGGATGAACAC / G
• gnomAD v2: 4-997389-GGTCGGATGAACAC-G
• gnomAD v4: 4-1003601-GGTCGGATGAACAC-G
• MyVariant Identifiers: chr4:g.997390_997402del (hg19) ; chr4:g.1003602_1003614del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003604_1003616del , CM000666.2:g.1003604_1003616del	GRCh38
NC_000004.11:g.997392_997404del , CM000666.1:g.997392_997404del	GRCh37
NC_000004.10:g.987392_987404del	NCBI36
NG_008103.1:g.21608_21620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1706_1718del	ENSP00000247933.4:p.Ser569TrpfsTer?
ENST00000514224.2:c.1706_1718del MANE Select	ENSP00000425081.2:p.Ser569TrpfsTer?
ENST00000652070.1:n.1762_1774del
ENST00000247933.8:c.1706_1718del	ENSP00000247933.4:p.Ser569TrpfsTer?
ENST00000514224.1:c.1310_1322del	ENSP00000425081.1:p.Ser437TrpfsTer?
ENST00000514417.1:n.98_110del
ENST00000514698.5:n.1813_1825del
NM_000203.4:c.1706_1718del	NP_000194.2:p.Ser569TrpfsTer?
NR_110313.1:n.1794_1806del
XM_006713882.2:c.1310_1322del	XP_006713945.1:p.Ser437TrpfsTer?
XM_011513459.1:c.1772_1784del	XP_011511761.1:p.Ser591TrpfsTer?
XM_011513460.1:c.1565_1577del	XP_011511762.1:p.Ser522TrpfsTer?
XM_011513461.1:c.1499_1511del	XP_011511763.1:p.Ser500TrpfsTer?
XM_011513462.1:c.1418_1430del	XP_011511764.1:p.Ser473TrpfsTer?
XM_011513463.1:c.1418_1430del	XP_011511765.1:p.Ser473TrpfsTer?
XR_924947.1:n.1962_1974del
NM_000203.5:c.1706_1718del MANE Select	NP_000194.2:p.Ser569TrpfsTer?
NM_001363576.1:c.1310_1322del	NP_001350505.1:p.Ser437TrpfsTer?
XM_011513461.2:c.1499_1511del	XP_011511763.1:p.Ser500TrpfsTer?
XM_017008163.1:c.746_758del	XP_016863652.1:p.Ser249TrpfsTer?